A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14178496



Internal ID5477827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61438912..61440245hg38UCSC Ensembl
Innerchr11:61438918..61440240hg38UCSC Ensembl
Outerchr11:61438907..61440251hg38UCSC Ensembl
chr11:61206384..61207717hg19UCSC Ensembl
Innerchr11:61206390..61207712hg19UCSC Ensembl
Outerchr11:61206379..61207723hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg381334
hg191334
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626581
Supporting Variants
SamplesNA18976
Known GenesSDHAF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14178496
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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